{"orpha":366,"name":"Glycogen storage disease due to glycogen debranching enzyme deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Amylo-1,6-glucosidase deficiency","Cori disease","Cori-Forbes disease","Forbes disease","GDE deficiency","GSD due to glycogen debranching enzyme deficiency","GSD type 3","GSDIII","Glycogen storage disease type 3","Glycogen storage disease type III","Glycogenosis due to glycogen debranching enzyme deficiency","Glycogenosis type 3","Glycogenosis type III","Limit dextrinosis"],"definition":"A rare inborn error of metabolism disease characterized by variable liver, skeletal muscle and cardiac involvement, usually presenting in early childhood.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-366/","orphanet_url":"https://www.orpha.net/en/disease/detail/366","names":{"fr":{"name":"Glycogénose par déficit en enzyme débranchante","synonyms":["Dextrinose limite","Déficit en amylo-1,6-glucosidase","GSD par déficit en enzyme débranchante","GSD type 3","GSD type III","GSDIII","Glycogénose type 3","Glycogénose type III","Maladie de Cori","Maladie de Cori-Forbes","Maladie de Forbes"],"definition":"Erreur innée rare du métabolisme caractérisée par une atteinte variable du foie, des muscles squelettiques et du coeur, se manifestant généralement dans la petite enfance."},"de":{"name":"Glykogenose Typ 3","synonyms":["Amylo-1,6-Glukosidase-Mangel","Cori-Forbes-Krankheit","Cori-Krankheit","Forbes-Krankheit","GDE-Mangel","GSD Typ 3","GSD durch Glykogen-Debranching-Enzym-Mangel","GSDIII","Glykogen-Speicherkrankheit Typ 3","Glykogen-Speicherkrankheit Typ III","Glykogen-Speicherkrankheit durch Glykogen-Debranching-Enzym-Mangel","Glykogenose Typ III","Glykogenose durch Glykogen-Debranching-Enzym-Mangel","Limit-Dextrinose"],"definition":"Eine seltene angeborene Stoffwechselerkrankung, die durch variable Beteiligung von Leber, Skelettmuskulatur und Herz gekennzeichnet ist und sich in der Regel im frühen Kindesalter manifestiert."},"es":{"name":"Enfermedad por almacenamiento de glucógeno por deficiencia de enzima desramificante del glucógeno","synonyms":["Deficiencia de GDE","Deficiencia de amilo-1,6- glucosidasa","Dextrinosis límite","Enfermedad de Cori","Enfermedad de Cori-Forbes","Enfermedad de Forbes","Enfermedad de almacenamiento de glucógeno tipo 3","Enfermedad de almacenamiento de glucógeno tipo III","GSD por deficiencia de enzima desramificante del glucógeno","GSD tipo 3","GSDIII","Glucogenosis por deficiencia de enzima desramificante del glucógeno","Glucogenosis tipo 3","Glucogenosis tipo III"],"definition":"Es un error innato del metabolismo poco frecuente, que suele manifestarse en la primera infancia, caracterizado por una afectación variable del hígado, del músculo esquelético y cardíaco."},"it":{"name":"Malattia da deposito di glicogeno da deficit dell'enzima deramificante il glicogeno","synonyms":["Deficit di GDE","Deficit di amilo-1,6-glucosidasi","Destrinosi limite","GSD da deficit dell'enzima deramificante il glicogeno","GSD, tipo 3","GSDIII","Glicogenosi da deficit dell'enzima deramificante il glicogeno","Glicogenosi, tipo 3","Malattia da deposito di glicogeno, tipo 3","Malattia di Cori","Malattia di Cori-Forbes","Malattia di Forbe"],"definition":"Il deficit dell'enzima deramificante del glicogeno (GDE) o glicogenosi tipo 3 (GSD 3) è una malattia da deposito del glicogeno, caratterizzata da grave debolezza muscolare ed epatopatia."},"nl":{"name":"Glycogeenstapelingsziekte door glycogeen debranching-enzymdeficiëntie","synonyms":["Amylo-1,6-glucosidasedeficiëntie","GDE-deficiëntie","GSD door glycogeen debranching-enzymdeficiëntie","GSD type 3","GSD type III","GSD-3","GSDIII","Glycogeenstapelingsziekte type 3","Glycogeenstapelingsziekte type III","Glycogenose door glycogeen debranching-enzymdeficiëntie","Glycogenose type 3","Glycogenose type III","Limiet-dextrinose","Ziekte van Cori","Ziekte van Cori-Forbes","Ziekte van Forbes"],"definition":"Een zeldzame aangeboren stofwisselingsziekte, gekenmerkt door variabele betrokkenheid van lever, skeletspier en hart, meestal met presentatie in de vroege kindertijd."},"pt":{"name":"Doença de armazenamento de glicogénio por deficiência na desramificação do glicogénio","synonyms":["Deficiência de amilo-1,6-glucosidase","Deficiência na desramificação do glicogénio","Doença de armazenamento de glicogénio tipo 3","Glicogenose tipo 3"],"definition":"A deficiência da enzima desramificadora de glicogénio (GDE), ou doença de armazenamento de glicogénio tipo 3 (GSD 3), é uma forma de doença de armazenamento de glicogénio caracterizada por fraqueza muscular grave e hepatopatia."},"pl":{"name":"Choroba spichrzania glikogenu spowodowana niedoborem enzymu odgałęziającego glikogen","synonyms":["Chorba Coriego i Forbesa","Choroba Coriego","Choroba Forbesa","Choroba spichrzania glikogenu typu 3","Dekstrynoza graniczna","Glikogenoza spowodowana niedoborem enzymu odgałęziającego glikogen","Glikogenoza typu 3","GSD spowodowana niedoborem enzymu odgałęziającego glikogen","GSD typu 3","GSDIII","Niedobór amylo-1,6-glukozydazy","Niedobór GDE"],"definition":"Niedobór enzymu wycinającego rozgałęzienia glikogenu (GDE) lub choroba spichrzania glikogenu typu 3 (GSD 3) to postać glikogenozy, która charakteryzuje się ciężkim osłabieniem mięśni i zaburzeniami funkcji wątroby."},"cs":{"name":"Glykogenóza způsobená deficitem glykogen odvětvujícího enzymu","synonyms":["Deficit amylo-1,6-glukosidázy","Coriho nemoc","Coriho-Forbesova nemoc","Forbesova nemoc","Deficit GDE","GSD typ 3","GSD III","Glykogenóza, typ 3","Glykogenóza, typ III","GSD způsobená deficitem glykogen odvětvujícího enzymu","Cori-Forbesova nemoc"]},"uk":{"name":"Хвороба накопичення глікогену, зумовлена дефіцитом ферменту розщеплення глікогену","synonyms":["Дефіцит аміло-1,6-глюкозидази","Хвороба Корі","Хвороба Корі-Форбса","Хвороба Форбса","Дефіцит GDE","Глікогенова хвороба 3-го типу","Хвороба накопичення глікогену III типу","Глікогеноз внаслідок дефіциту ферменту розщеплення глікогену","Глікогеноз 3 типу","Глікогеноз III типу","GSD внаслідок дефіциту ферменту розщеплення глікогену","GSD тип 3","GSDIII","Обмежений декстриноз"],"definition":"Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy."},"zh":{"name":"糖原脱支酶缺乏所致糖原贮积病","synonyms":["糖原脱支酶缺乏所致糖原贮积病"]},"tr":{"name":"Glikojen budayıcı enzimi eksikliğine bağlı glikojen depo hastalığı","synonyms":["GSDIII","GSD tip 3","Cori hastalığı","Forbes hastalığı","GDE eksikliği","Limit dekstrinoz","Cori-Forbes hastalığı","Glikojenoz tip 3","Glikojenoz tip III","Glikojen depo hastalığı tip 3","Amilo-1,6-glukozidaz eksikliği","Glikojen depo hastalığı tip III","Glikojen budayıcı enzim eksikliğine bağlı GSD","Glikojen budayıcı enzim eksikliğine bağlı glikojenoz"]}},"xrefs":[{"source":"OMIM","code":"232400","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E74.0","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"5C51.3","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"530430134"},{"source":"MONDO","code":"0009291","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D006010","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0017922","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9442","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10053250","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":79201,"name":"Glycogen storage disease","classifications":[150,156]},{"orpha":217572,"name":"Glycogen storage disease with hypertrophic cardiomyopathy","classifications":[146,156,233]},{"orpha":206959,"name":"Muscular glycogenosis","classifications":[156,181]},{"orpha":101940,"name":"Rare metabolic liver disease","classifications":[156,183]}],"children":[],"genes":[{"symbol":"AGL","name":"amylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"10571954[PMID]_17908927[PMID]","hgnc":"321","ensembl":"ENSG00000162688","omim":"610860","loci":["1p21.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood","Infancy"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.0,"area":"United States","status":"Validated","source":"9412782[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000293","label":"Full cheeks","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002155","label":"Hypertriglyceridemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001943","label":"Hypoglycemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002721","label":"Immunodeficiency","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001256","label":"Intellectual disability, mild","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003198","label":"Myopathy","frequency":"Frequent (79-30%)","criteria":null}]}}